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576 Newest Publications in human mutation
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0.5Mb Array as a First‐Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and its Implementation in Clinical Practice
15-05-2013 | Malgorzata I. Srebniak, Lisanne Mout, Diane Van Opstal, Robert‐Jan H. Galjaard, Human Mutation, 2013
ABSTRACT Using whole genome array testing instead of karyotyping in prenatal diagnosis for all indications may be desirable because of the higher diagnostic yield and shorter reporting time. The goal of this research was finding the optimal array resolution that could replace routine ...
Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy–Walker Malformation and Occipital Cephaloceles>
15-05-2013 | Benjamin W. Darbro, Vinit B. Mahajan, Lokesh Gakhar, Jessica M. Skeie, Elizabeth Campbell, Shu Wu, Xinyu Bing, Kathl ..., Human Mutation, 2013
ABSTRACT We performed whole‐exome sequencing of a family with autosomal dominant Dandy–Walker malformation and occipital cephaloceles and detected a mutation in the extracellular matrix (ECM) protein‐encoding gene NID1. In a second family, protein interaction network analysis identified a ...
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness and DNA repair deficiency
09-05-2013 | Xiaohui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John J. DiGiovanna, Deborah Tamura, Danie ..., Human Mutation, 2013
ABSTRACT Melanoma is the most deadly form of skin cancer and DiGeorge syndrome (DGS) is the most frequent interstitial deletion syndrome. We characterized a novel balanced t(9;22)(p21;q11.2) translocation in a patient with melanoma, DNA repair deficiency, and features of DiGeorge syndrome ...
Dissecting the Structure and Mechanism of a Complex Duplication‐Triplication Rearrangement in the DMD Gene
06-05-2013 | Aliya Ishmukhametova, Jian‐Min Chen, Rafaëlle Bernard, Bernard Massy, Frédéric Baudat, Amandine Boyer, Déborah Méchi ..., Human Mutation, 2013
ABSTRACT Pathogenic complex genomic rearrangements are being increasingly characterized at the nucleotide level, providing unprecedented opportunities to evaluate the complexities of mutational mechanisms. Here we report the molecular characterization of a complex duplication‐triplication ...
Simultaneous Hyper‐ and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b
06-05-2013 | Stéphanie Maupetit‐Méhouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve, Christelle Reynes, Guio ..., Human Mutation, 2013
ABSTRACT Most patients with pseudohypoparathyroidism type 1b (PHP‐1b) display a loss of imprinting (LOI) encompassing the GNAS locus resulting in PTH resistance. In other imprinting disorders, such as Russell Silver or Beckwith Wiedemann syndrome, we and others have shown that the LOI is ...
Functional Analysis of a de novo ACTB Mutation in a Patient with Atypical Baraitser‐Winter Syndrome
06-05-2013 | Jennifer J. Johnston, Kuo‐Kuang Wen, Kim Keppler‐Noreuil, Melissa McKane, Jessica L. Maiers, Alexander Greiner, Juli ..., Human Mutation, 2013
ABSTRACT Exome sequence analysis can be instrumental in identifying the genetic etiology behind atypical disease. We report a patient presenting with microcephaly, dysmorphic features, and intellectual disability with a tentative diagnosis of Dubowitz syndrome. Exome analysis was ...
Molecular characterization of carbamoyl‐phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool
03-05-2013 | Carmen Diez‐Fernandez, Ana I. Martínez, Satu Pekkala, Belén Barcelona, Isabel Pérez‐Arellano, Ana María Guadalajara, ..., Human Mutation, 2013
ABSTRACT The urea cycle disease carbamoyl‐phosphate synthetase deficiency (CPS1D) has been associated with many mutations in the CPS1 gene [Häberle et al. Hum Mutat 2011; 32:579–589]. The disease‐causing potential of most of these mutations is unclear. To test the mutations effects, we ...
Analysis of LMNB1 duplications in Autosomal dominant Leukodystrophy Provides Insights into Duplication Mechanisms and allele specific Expression
03-05-2013 | Elisa Giorgio, Harshvardhan Rolyan, Laura Kropp, Anish Baswanth Chakka, Svetlana Yatsenko, Eleonora Di Gregorio, Dan ..., Human Mutation, 2013
ABSTRACT Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the ...
PhenoTips: Patient Phenotyping Software for Clinical and Research Use
01-05-2013 | Marta Girdea, Sergiu Dumitriu, Marc Fiume, Sarah Bowdin, Kym M. Boycott, Sébastien Chénier, David Chitayat, Hanna Fa ..., Human Mutation, 2013
ABSTRACT We have developed PhenoTips: open source software for collecting and analyzing phenotypic information for patients with genetic disorders. Our software combines an easy‐to‐use interface, compatible with any device that runs a Web browser, with a standardized database back‐end. ...
Somatic Alterations Contributing to Metastasis of a Castration Resistant Prostate Cancer
01-05-2013 | Michael L. Nickerson, Kate M. Im, Kevin J. Misner, Wei Tan, Hong Lou, Bert Gold, David W. Wells, Hector C. Bravo, Ka ..., Human Mutation, 2013
ABSTRACT Metastatic castration resistant prostate cancer (mCRPC) is a lethal disease and molecular markers that differentiate indolent from aggressive subtypes are needed. We sequenced the exomes of five metastatic tumors and healthy kidney tissue from an index case with mCRPC to identify ...
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